ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.837G>A (p.Glu279=)

gnomAD frequency: 0.00087  dbSNP: rs149861510
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460530 SCV000554454 benign Long QT syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000603770 SCV000728591 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29726953)
Ambry Genetics RCV002436471 SCV002677694 likely benign Cardiovascular phenotype 2019-04-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV000603770 SCV005211316 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003970295 SCV004776824 likely benign KCNJ5-related disorder 2020-09-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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